Pachyonychia Congenita

Common Name(s)

Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped although 20/20 nails dystrophy is found only in one type of PC. The most debilitating feature is that affected individuals develop painful calluses and blisters on the soles of their feet (plantar keratoderma) and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include leukokeratosis (white patches on the tongue and inside of the mouth) sometimes misdiagnosed as thrush or leukoplakia; follicular hyperkeratosis (bumps around the elbows, knees, waistline or other friction points), and various cysts including numerous steatocystomas. Features may vary among affected individuals depending on their specific mutation. The classification of PC into two types has been replaced with a more correct system based on genetic testing identifying the specific keratin gene involved (see McLean, Journal of Investigative Dermatology, May 2011). The types are PC-K6a, PC-K6b, PC-K6c, PC-K16 and PC-K17. More than 100 specific mutations have been found which cause PC.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachyonychia Congenita" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 7 May 2014

View Details
Pachyonychia Congenita Project

Our mission is to develop and deliver effective treatments for Pachyonychia Congenita patients worldwide. Activities include research grants, educational outreach programs, Int'l PC Consortium annual scientific symposium, patient support meetings held annually, an IRB-approved research registry, free genetic testing and webinars and other support services for patients, families,

Last Updated: 1 May 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachyonychia Congenita" for support, advocacy or research.

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 7 May 2014

View Details
Pachyonychia Congenita Project

Our mission is to develop and deliver effective treatments for Pachyonychia Congenita patients worldwide. Activities include research grants, educational outreach programs, Int'l PC Consortium annual scientific symposium, patient support meetings held annually, an IRB-approved research registry, free genetic testing and webinars and other support services for patients, families,

http://www.pachyonychia.org

Last Updated: 1 May 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

International PC Research Registry

Registry of approximately 1300 individuals

Updated 1 May 2014

Go To URL
For People With PC

Brochure for those with PC

Updated 1 May 2014

Open Doc

Updated 1 May 2014

Open Doc
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachyonychia Congenita" returned 35 free, full-text research articles on human participants. First 3 results:

Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
 

Author(s): Alan D Irvine

Journal: J. Invest. Dermatol.. 2012 Jul;132(7):1757-9.

 

In this issue, Wilson et al. report the first case of homozygous dominant negative mutations in KRT17 in pachyonychia congenita (PC). Homozygous dominant negative mutations are a rare occurrence in keratin disorders and this is a first report in PC. These mutations cause a distinct ...

Last Updated: 14 Jun 2012

Go To URL
Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
 

Author(s): Neil J Wilson, Mónica L Cárdenas Pérez, Anders Vahlquist, Mary E Schwartz, C David Hansen, W H Irwin McLean, Frances J D Smith

Journal: J. Invest. Dermatol.. 2012 Jul;132(7):1921-4.

 

Last Updated: 14 Jun 2012

Go To URL
Do you know this syndrome? Pachyonychia congenita.
 

Author(s): Gleison Vieira Duarte, Rosângela Cunha

Journal: An Bras Dermatol. ;86(6):1222-7.

 

Pachyonychia Congenita is a rare genodermatosis of keratinization, first described in 1906 by Jadassohn and Lewandowsky. Besides not being well known, phenotypic variability and oligosymptomatic subtypes make the diagnosis difficult. We report a family with three generations affected, ...

Last Updated: 27 Jan 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachyonychia Congenita" returned 8 free, full-text review articles on human participants. First 3 results:

The phenotypic and molecular genetic features of pachyonychia congenita.
 

Author(s): W H Irwin McLean, C David Hansen, Mark J Eliason, Frances J D Smith

Journal: J. Invest. Dermatol.. 2011 May;131(5):1015-7.

 

Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar ...

Last Updated: 15 Apr 2011

Go To URL
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
 

Author(s): Sancy A Leachman, Robyn P Hickerson, Peter R Hull, Frances J D Smith, Leonard M Milstone, E Birgitte Lane, Sherri J Bale, Dennis R Roop, W H Irwin McLean, Roger L Kaspar

Journal: J. Dermatol. Sci.. 2008 Sep;51(3):151-7.

 

The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable ...

Last Updated: 4 Aug 2008

Go To URL
Challenges in developing therapies for rare diseases including pachyonychia congenita.
 

Author(s): Roger L Kaspar

Journal: J. Investig. Dermatol. Symp. Proc.. 2005 Oct;10(1):62-6.

 

The ability to attract sufficient resources to effectively develop therapeutics for rare diseases is a daunting task. This review summarizes existing resources for rare diseases and discusses some of the challenges and strategies associated with developing therapies for small patient ...

Last Updated: 27 Oct 2005

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Topical Sirolimus for the Treatment of Pachyonychia Congenita (PC)
 

Status: Recruiting

Condition Summary: Pachyonychia Congenita

 

Last Updated: 28 May 2014

Go to URL
Simvastatin Treatment of Pachyonychia Congenita
 

Status: Not yet recruiting

Condition Summary: Pachyonychia Congenita

 

Last Updated: 23 Jun 2011

Go to URL
Topical Sirolimus for Plantar Keratoderma in Adults With Pachyonychia Congenita (PC)
 

Status: Recruiting

Condition Summary: Pachyonychia Congenita; Plantar Keratoderma

 

Last Updated: 6 Feb 2014

Go to URL